An overall concordance rate in monozygotic twins was documented to be 25% as compared to dizygotic twins with 3%. First degree relatives have a chance of around 3% of developing the disease. Caucasians show an increase frequency of HLA-B8. The Japanese lupus patients had a stronger association with HLA-DR2.

The peak incidence of seizures is expected 36 hours following the onset of alcohol withdrawal.

Pathophysiology:
Chronic alcohol consumption enhances GABA mediated inhibition in the CNS (similar to benzodiazepines) and inhibits NMDA-type glutamate receptors. Alcohol withdrawal is thought to lead to the opposite (decreased inhibitory GABA and increased NMDA glutamate transmission).

Clinical course in alcohol withdrawal:
Symptoms begin 6-12 hours following the onset of alcohol withdrawal
Seizures occur 36 hours following the onset of withdrawal
Delirium tremens (coarse tremor, confusion, delusions, auditory and visual hallucinations, fever, tachycardia) occurs approximately 72 hours after the onset of alcohol withdrawal.

Management
First-line: benzodiazepines e.g. lorazepam, chlordiazepoxide.
Carbamazepine is also effective in the treatment of alcohol withdrawal.
Phenytoin is said not to be as effective in the treatment of alcohol withdrawal seizures.

It is a metabolic bone disease caused by defective osteoclastic resorption of immature bone. Osteopetrosis is also known as marble bone disease. Osteoclasts are unable to adequately acidify bone matrix. Impaired bone resorption leads to overly dense bone that is more likely to fracture. It is usually treated with bone marrow transplant and high dose calcitriol.

Extrinsic allergic alveolitis (EAA) refers to a group of lung diseases that can develop after exposure to certain substances. The name describes the origin and the nature of these diseases:

‘extrinsic’ – caused by something originating outside the body
‘allergic’ – an abnormally increased (hypersensitive) body reaction to a common substance
‘alveolitis’ – inflammation in the small air sacs of the lungs (alveoli)

Symptoms can include: fever, cough, worsening breathlessness and weight loss. The diagnosis of the disease is based on a history of symptoms after exposure to the allergen and a range of clinical tests which usually includes: X-rays or CT scans, lung function and blood tests.

EAA is not a ‘new’ occupational respiratory disease and occupational causes include bacteria, fungi, animal proteins, plants and chemicals.

Examples of EAA include:

Bird fancier’s lung (BFL) is a type of hypersensitivity pneumonitis (HP). It is triggered by exposure to avian proteins present in the dry dust of the droppings and sometimes in the feathers of a variety of birds. The lungs become inflamed, with granuloma formation. Birds such as pigeons, parakeets, cockatiels, shell parakeets (budgerigars), parrots, turtle doves, turkeys and chickens have been implicated.

People who work with birds or own many birds are at risk. Bird hobbyists and pet store workers may also be at risk. This disease is an inflammation of the alveoli in the lungs caused by an immune response to inhaled allergens from birds. Initial symptoms include shortness of breath (dyspnoea), especially after sudden exertion or when exposed to temperature change, which can resemble asthma, hyperventilation syndrome or pulmonary embolism. Chills, fever, non-productive cough and chest discomfort may also occur.

A definitive diagnosis can be difficult without invasive testing, but extensive exposure to birds combined with reduced diffusing capacity are strongly suggestive of this disease. X-ray or CT scans will show physical changes to the lung structure (a ground glass appearance) as the disease progresses. Precise distribution and types of tissue damage differ among similar diseases, as does response to treatment with Prednisone.

Mumps presents with a prodromal phase of general malaise and fever. On examination there is usually painful parotid swelling which has high chances of becoming bilateral. In OM with effusion there are no signs of infection and the only symptom is usually hearing loss. Acute otitis externa produces otalgia as well as ear discharge and itching. Acute OM produces otalgia and specific findings upon otoscopy. In acute mastoiditis the patient experiences ear discharge, otalgia, headache, hearing loss and other general signs of inflammation.

The history is suggestive of hypertrophic obstructive cardiac myopathy. The degree of left ventricular hypertrophy is strongly associated with sudden cardiac death.

History and CXR are suggestive of tuberculosis. Acid fast bacilli should be seen on microscopy to confirm the diagnosis.

Physiological abnormalities in anorexia include:
– Hypokalaemia – from diuretic or laxative use
– Low FSH, LH, oestrogens and testosterone – most consistent endocrine abnormality was low serum luteinizing and follicle stimulating hormone (LH and FSH) levels associated with depressed serum oestradiol levels.
– Raised cortisol and growth hormone
– Impaired glucose tolerance – lack of glucose precursors in the diet or low glycogen stores. Low blood glucose may also be due to impaired insulin clearance
– Hypercholesterolemia
– Hypercarotenaemia
– Low T3

Haemophilia B (Christmas disease), is the deficiency of clotting factor IX and is inherited in an X-linked recessive pattern. The factor IX level dictates the disease severity and established arthropathy is usually seen in those with severe disease.

The aforementioned patient’s history and presentation is consistent with the development of hemarthrosis. Joint aspiration is not recommended. The treatment, therefore, should be intravenous replacement of the deficient clotting factor with plasma-derived factor IX concentrate.

The other listed options are ruled out because:
1. Joint aspiration is not preferred over the administration of clotting factor as the first step of management.
2. DDAVP (desmopressin) can increase factor VIII levels transiently in those with mild haemophilia A and is useful prior to minor surgical procedures in such patients.
3. Cryoprecipitate is rich in fibrinogen, factor VIII, and von Willebrand factor and is used in the treatment of haemophilia A.

The patient is displaying signs and symptoms of hyperviscosity syndrome, secondary to the Waldenström’s macroglobulinemia. Treatment of choice is plasmapheresis.

Waldenström’s macroglobulinemia (also called lymphoplasmacytic lymphoma) is an uncommon type of non-Hodgkin lymphoma seen in older people. It is a lymphoplasmacytoid malignancy characterised by the secretion of a monoclonal IgM paraprotein. Its features include monoclonal IgM paraproteinemia; hyperviscosity syndrome leading to bilateral central retinal vein occlusion (CRVO) and hence, visual disturbances; weight loss and lethargy; hepatosplenomegaly and lymphadenopathy; and cryoglobulinemia. It is not, however, associated with bone pain.

The darkness of the cinema room will have caused halfway dilation of the pupil. This can cause an acute attack of angle closure glaucoma. The appropriate test to diagnose this is applanation tonometry.

The patient is AMA+ and weakly + for anti-dsDNA, suggesting an autoimmune process. She also has gritty eyes, which makes you think Sjogren’s syndrome. She has an elevated ALP and normal AST/ ALT. All of these factors, in addition to her middle age and the fact that she is a woman, make the diagnosis of primary biliary cirrhosis (PBC) most likely. It is associated with conditions (autoimmune) such as Sjogren’s syndrome. The treatment for this disease initially is ursodeoxycholic acid. Liver transplantation is the definitive treatment for end-stage disease.

This is most likely describing irritable bowel syndrome (IBS). Symptoms are either diarrhoea, constipation, or both, abdominal pain, bloating, of varying duration. It is a functional, not an organic problem, as far as research shows at this point. It is essentially a diagnosis of exclusion. Treatment is a high fibre diet with fluids. Caffeine should be avoided as this can worsen symptoms.

Malignant mesothelioma is a type of cancer that occurs in the thin layer of tissue that covers the majority of the internal organs (mesothelium).
Malignant Mesothelioma (MM) is a rare but rapidly fatal and aggressive tumour of the pleura and peritoneum. Aetiology of all forms of mesothelioma is strongly associated with industrial pollutants, of which asbestos is the principal carcinogen.

Thoracoscopically guided biopsy should be performed if mesothelioma is suggested; the results are diagnostic in 98% of cases. No specific treatment has been found to be of benefit, except radiotherapy, which reduces seeding and invasion through percutaneous biopsy sites.

Median survival for patients with malignant mesothelioma is 11 months. It is almost always fatal.

One of the most important complications in patients with PKD is being affected by berry aneurysms that may burst, causing a subarachnoid haemorrhage, which seems to be the case in this patient.

Lewy body dementia is the second most common cause of dementia in the elderly after Alzheimer’s disease. The core feature is a progressive dementia, but other characteristic features include Parkinsonism, visual hallucinations, fluctuating cognitive abilities and executive function, and an increased risk of falls or autonomic failure.

The SEM is dependent on the variation in the population and the number of the extracted samples. A large variation in the population causes a large difference in the sample means, ultimately resulting in a larger SEM. However, as more samples are extracted from the population, the sample means move closer to the population mean, which results in a smaller SEM. In short, the SEM is an indicator of how close the sample mean is to the population mean. Standard error of the mean = standard deviation / square root (number of patients)
The standard error of the mean is calculated by the standard deviation / square root (number of patients)

= 12 / square root (64) = 12 / 8 = 1.5

Deletion of part of chromosome 5 or 7 is a poor prognostic feature for acute myeloid leukaemia (AML).

AML is the acute expansion of the myeloid stem line, which may occur as a primary disease or follow the secondary transformation of a myeloproliferative disorder. It is more common over the age of 45 and is characterized by signs and symptoms largely related to bone marrow failure such as anaemia (pallor, lethargy), frequent infections due to neutropenia (although the total leucocyte count may be very high), thrombocytopaenia (bleeding), ostealgia, and splenomegaly.

The disease has poor prognosis if:
1. Age of the patient >60 years
2. >20% blasts seen after the first course of chemotherapy
3. Chromosomal aberration with deletion of part of chromosome 5 or 7.

Acute promyelocytic leukaemia (APL) is an aggressive form of AML.

Achondroplasia is the most common type of short-limb disproportionate dwarfism. A single gene mapped to the short arm of chromosome 4 (band 4p16.3) is responsible for achondroplasia and is transmitted as an autosomal dominant trait. All people with achondroplasia have a short stature.
Characteristic features of achondroplasia include an average-size trunk, short arms and legs with particularly short upper arms and thighs, limited range of motion at the elbows, and an enlarged head (macrocephaly) with a prominent forehead. Fingers are typically short and the ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance. People with achondroplasia are generally of normal intelligence.
Examination of the infant after birth shows increased front-to-back head size. There may be signs of hydrocephalus. It may be diagnosed radiographically at birth, or becomes obvious within the first year with disparity between a large skull, normal trunk length and short limbs.

Patients with compressive neuropathy of the ulnar nerve typically describe numbness and tingling of the ulnar-sided digits of the hand, classically in the small finger and ulnar aspect of the ring finger. Among the general population, symptoms usually begin intermittently and are often worse at night, particularly if the elbow is flexed while sleeping. As the disease progresses, paraesthesia may occur more frequently and during the daytime.